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Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for aut...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Case Rep
Prif Awduron: Ahram, Dina F., Stambouli, Danae, Syrogianni, Aleksandra, Al‐Sarraj, Yasser, Gerou, Spyridon, El‐Shanti, Hatem, Kambouris, Marios
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5134130/
https://ncbi.nlm.nih.gov/pubmed/27980747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.705
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